Staff reporter, with staff writerResearchers at Mackay Memorial Hospital have lowered the average age of diagnosis for mucopolysaccharidosis type IVA (MPS IVA), a rare congenital disease that is difficult to diagnose, from 4.3 years to only two months.
According to primary author Lin Hsiang-yu (林翔宇), who chairs the MacKay Memorial Hospital’s International Rare Disease Center, MPS IVA is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine 6-sulfatase.
The disorder results in a buildup of mucopolysaccharides and irreversible damage to bones and organs.
Photo courtesy of Mackay Memorial Hospital
Lin said that people with MPS IVA, also known as Morquio syndrome, usually have a life expectancy of 10 years.
Morquio syndrome is progressive and challenging to detect during infancy and can only be diagnosed after the buildup of mucopolysaccharide as the child ages, at which point the symptoms — such as shortness of the neck, pectus carinatum (also known as “pigeon breast”), malformed bones, movement disorders or breathing problems — are irreversible, Lin said.
Working with the Taipei Institute of Pathology and the Taipei-based Chinese Foundation of Health, Lin’s team tested 264,843 newborns for mucopolysaccharide levels from September 2019 to October 2022.
The tests found 95 suspected cases, of which nine were confirmed to have MPS IVA, or a rate of 3.4 cases per 100,000 infants.
The team extracted infants’ blood from their heel to test enzymatic activity. If the activity did not reach critical value, the infant was run through more tests: a blood test, urine tests, an X-ray, an ultrasound and genetic tests, Lin said.
The screening method allowed doctors to diagnose whether infants have Morquio at two months, enabling them to undergo early enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) treatments, he said.
Early diagnosis and treatment are critical to treating Morquio, as it prevents the syndrome from causing irreversible damage to the patient’s organs, he said.
The hospital has treated 11 people with Morquio with ERT since 2011, significantly improving their joint functions and allowing them greater mobility while strengthening their lung capacity and preventing obstructive sleep apnea, he added.
The screening was the first in the world, and the paper’s results were of great interest to international researchers, adding that the US also intended to include MPS IVA as part of standard newborn infant screenings, he said.
The findings were submitted to the Genetics in Medicinejournal for next month’s issue, which is to publish them under the title “Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.”
An undersea cable to Penghu County has been severed, the Ministry of Digital Affairs said today, with a Chinese-funded ship suspected of being responsible. It comes just a month after a Chinese ship was suspected of severing an undersea cable north of Keelung Harbor. The National Communications and Cyber Security Center received a report at 3:03am today from Chunghwa Telecom that the No. 3 cable from Taiwan to Penghu was severed 14.7km off the coast of Tainan, the Ministry of Digital Affairs said. The Coast Guard Administration (CGA) upon receiving a report from Chunghwa Telecom began to monitor the Togolese-flagged Hong Tai (宏泰)
A cat named Mikan (蜜柑) has brought in revenue of more than NT$10 million (US$305,390) for the Kaohsiung MRT last year. Mikan, born on April 4, 2020, was a stray cat before being adopted by personnel of Kaohsiung MRT’s Ciaotou Sugar Refinery Station. Mikan was named after a Japanese term for mandarin orange due to his color and because he looks like an orange when curled up. He was named “station master” of Ciaotou Sugar Refinery Station in September 2020, and has since become famous. With Kaohsiung MRT’s branding, along with the release of a set of cultural and creative products, station master Mikan
RISING TOURISM: A survey showed that tourist visits increased by 35 percent last year, while newly created attractions contributed almost half of the growth Changhua County’s Lukang Old Street (鹿港老街) and its surrounding historical area clinched first place among Taiwan’s most successful tourist attractions last year, while no location in eastern Taiwan achieved a spot in the top 20 list, the Tourism Administration said. The listing was created by the Tourism Administration’s Forward-looking Tourism Policy Research office. Last year, the Lukang Old Street and its surrounding area had 17.3 million visitors, more than the 16 million visitors for the Wenhua Road Night Market (文化路夜市) in Chiayi City and 14.5 million visitors at Tainan’s Anping (安平) historical area, it said. The Taipei 101 skyscraper and its environs —
Taiwan on Friday said a New Zealand hamburger restaurant has apologized for a racist remark to a Taiwanese customer after reports that it had first apologized to China sparked outrage in Taiwan. An image posted on Threads by a Taiwanese who ate at Fergburger in Queenstown showed that their receipt dated Sunday last week included the words “Ching Chang,” a racial slur. The Chinese Consulate-General in Christchurch in a statement on Thursday said it had received and accepted an apology from the restaurant over the incident. The comment triggered an online furor among Taiwanese who saw it as an insult to the
RSS